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The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Abu-El-Haija A, Reddi HV, Wand H, Rose NC, Mori M, Qian E, Murray MF; ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net. Abu-El-Haija A, et al. Among authors: qian e. Genet Med. 2023 May;25(5):100803. doi: 10.1016/j.gim.2023.100803. Epub 2023 Mar 15. Genet Med. 2023. PMID: 36920474 No abstract available.
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Schmidt RJ, Steeves M, Bayrak-Toydemir P, Benson KA, Coe BP, Conlin LK, Ganapathi M, Garcia J, Gollob MH, Jobanputra V, Luo M, Ma D, Maston G, McGoldrick K, Palculict TB, Pesaran T, Pollin TI, Qian E, Rehm HL, Riggs ER, Schilit SLP, Sergouniotis PI, Tvrdik T, Watkins N, Zec L, Zhang W, Lebo MS; ClinGen Low Penetrance/Risk Allele Working Group. Schmidt RJ, et al. Among authors: qian e. Genet Med. 2024 Mar;26(3):101036. doi: 10.1016/j.gim.2023.101036. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054408
Design and Reporting Considerations for Genetic Screening Tests.
Hagenkord J, Funke B, Qian E, Hegde M, Jacobs KB, Ferber M, Lebo M, Buchanan A, Bick D. Hagenkord J, et al. Among authors: qian e. J Mol Diagn. 2020 May;22(5):599-609. doi: 10.1016/j.jmoldx.2020.01.014. Epub 2020 Feb 22. J Mol Diagn. 2020. PMID: 32092541 Free article. Review.
Cell-free hemoglobin triggers macrophage cytokine production via TLR4 and MyD88.
Schaaf KR, Landstreet SR, Pugazenthi S, Qian EY, Putz ND, Siderova T, Owen AM, Bohannon JK, Ware LB, Bastarache JA, Shaver CM. Schaaf KR, et al. Among authors: qian ey. Am J Physiol Lung Cell Mol Physiol. 2024 Jan 1;326(1):L29-L38. doi: 10.1152/ajplung.00123.2023. Epub 2023 Nov 22. Am J Physiol Lung Cell Mol Physiol. 2024. PMID: 37991487 Free article.
D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.
Werner KM, Cox AJ, Qian E, Jain P, Ji W, Tikhonova I, Castaldi C, Bilguvar K, Knight J, Ferdinandusse S, Fawaz R, Jiang YH, Gallagher PG, Bizzarro M, Gruen JR, Bale A, Zhang H. Werner KM, et al. Among authors: qian e. Am J Med Genet A. 2022 Jan;188(1):357-363. doi: 10.1002/ajmg.a.62520. Epub 2021 Oct 8. Am J Med Genet A. 2022. PMID: 34623748 Free PMC article.
Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Reddi HV, Wand H, Funke B, Zimmermann MT, Lebo MS, Qian E, Shirts BH, Zou YS, Zhang BM, Rose NC, Abu-El-Haija A; ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net. Reddi HV, et al. Among authors: qian e. Genet Med. 2023 May;25(5):100804. doi: 10.1016/j.gim.2023.100804. Epub 2023 Mar 27. Genet Med. 2023. PMID: 36971772 No abstract available.
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